P34T (p.Pro34Thr) variant of GRN (Progranulin)
P34T (p.Pro34Thr) in GRN (Progranulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- ExAC rs748147151
- TOPMed rs748147151
- gnomAD rs748147151
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.19
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.89
- CADD 16.80
- PolyPhen-2 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available